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Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

Autor: Boerkoel, C. F., O'Neill, S., André, J. L., Benke, P. J., Bogdanovíć, R., Bulla, M., Burguet, A., Cockfield, S., Cordeiro, I., Ehrich, J. H. H., Fründ, S., Geary, D. F., Ieshima, A., Illies, F., Joseph, M. W., Kaitila, I., Lama, G., Leheup, B., Ludman, M. D., McLeod, D.R.

Publikováno v: European Journal of Pediatrics. 2000, Vol. 159 Issue 1/2, p1. 7p.

Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.

Autor: Hejla D; Department of Pediatrics, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada., Huynh S; Provincial Medical Genetics Program, B.C. Women's Hospital, Vancouver, British Columbia, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Samra S; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.; Experimental Medicine Program, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Richmond PA; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada., Dalmann J; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada., Del Bel KL; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada., Byres L; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada., Lehman A; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada., Turvey SE; The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada., Boerkoel CF; Provincial Medical Genetics Program, B.C. Women's Hospital, Vancouver, British Columbia, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63548. Date of Electronic Publication: 2024 Jan 24.

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